Molecular diagnostic for genetic predisposition to acute conorary syndrome


The AHA reported that in 2016, 15,5 millions patients had coronary artery disease in the US. Each year more than 4 millions cases of acute coronary syndromes are recorded. The figure is similar in Europe while prevalence is increasing in Asia. ACS remain the second cause of death in developed countries and the first cause of premature death. Although a family history of coronary artery disease is associated with increased risk of ACS, the mechanisms involved remain not fully elucidated.

Identification of a mutation related to the inherited risk of coronary artery disease and the occurrence of premature ACS is critical to stratify patients but also to allow family screening and counseling.



Researchers have explored a panel of candidate genes for ACS occurrence in 120 patients admitted for an early ACS (before 50 years for men and before 55 years for women). Eight patients carried mutations in a specific gene whereas the frequency of each mutation was very low in the control population in ExAC database (<0.1%). This gene is normally expressed in adipocytes and macrophages, and pathologically in the vicinity of atheroma plaques and in foam cells.

Researchers propose a method for predicting a predisposition to premature ACS from a biological sample. Patients carrying one of these 3 mutations have around 15 fold higher risk to develop a premature ACS than the overall population.

The molecular diagnosis is performed at a first stage by gene amplification with specific primers for each exon carrying the mutations. The mutation is then revealed either with a specific hybridization probe or by Sanger sequencing.



No genetic biomarkers of predisposition to premature ACS are commercially available.

Public health authorities recommend a coronary risk assessment with the SCORE or Framingham charts, based on standard risk factors (e.g. age, total cholesterol, systolic blood pressure and smoking status). This molecular diagnosis could be a complementary test as part of a systematic health screen.

This test is rapid and non invasive (blood test)



This diagnostic test could be performed in routine clinical practice to:

  • identify individuals at high risk for premature ACS and take preventive measures
  • perform an etiological diagnosis for patients with previous ACS
  • screen and counsel family and relatives

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Axes & sous-axes :
Santé & technologies du vivant

Etat Propriété Intellectuelle :

Partenariats :
Licence et/ou collaboration R&D (co-financement possible).

Propriétaires :
Aix-Marseille Université, INSERM, Assistance Publique - Hôpitaux de Marseille

Maturité :